Article

Structural insights into Charcot-Marie-Tooth disease-linked mutations in human GDAP1

2022-02-18

Abstract excerpt

<h4>ABSTRACT</h4> Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral polyneuropathy in humans, and its different subtypes are linked to mutations in dozens of different genes. Mutations in ganglioside-induced differentiation-associated protein 1 (GDAP1) cause two types of CMT, demyelinating CMT4A and axonal CMT2K. The GDAP1-linked CMT genotypes are mainly missense point mutations. Despite c...

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Literature Corpus work: 48549b5e-a301-5ec9-959d-ec177264db77
DOI: 10.1101/2022.02.18.481076

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